CA12[gene] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 1291975	NM_001218.5(CA12):c.*234C>T	CA12	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 793440	NM_001218.5(CA12):c.1061C>T (p.Ala354Val)	CA12 (A283V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2345650	NM_001218.5(CA12):c.1057C>T (p.His353Tyr)	CA12 (H342Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213823	NM_001218.5(CA12):c.1037C>A (p.Thr346Asn)	CA12 (T275N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 561267	NM_001218.5(CA12):c.956_957del (p.Val319fs)	CA12 (V248fs +2 more)	Microsatellite (frameshift variant +1 more)	Isolated hyperchlorhidrosis	GLikely pathogenic
Select item 3044868	NM_001218.5(CA12):c.936C>T (p.Gly312=)	CA12	Single nucleotide variant (synonymous variant +1 more)	CA12-related disorder	GLikely benign
Select item 218369	NM_001218.5(CA12):c.908-1G>A	CA12	Single nucleotide variant (splice acceptor variant)	Isolated hyperchlorhidrosis +1 more	GConflicting classifications of pathogenicity
Select item 1278122	NM_001218.5(CA12):c.908-283dup	CA12	Duplication (intron variant)	not provided	GBenign
Select item 1263601	NM_001218.5(CA12):c.875-224dup	CA12	Duplication (intron variant)	not provided	GBenign
Select item 1245197	NM_001218.5(CA12):c.875-209del	CA12	Deletion (intron variant)	not provided	GBenign
Select item 1282856	NM_001218.5(CA12):c.874+127G>A	CA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 973947	NM_001218.5(CA12):c.863_864insACCT (p.Phe289fs)	CA12 (F289fs +1 more)	Insertion (frameshift variant +1 more)	Isolated hyperchlorhidrosis	GUncertain significance
Select item 218367	NM_001218.5(CA12):c.859_860insACCT (p.Thr287fs)	CA12 (T287fs +1 more)	Insertion (non-coding transcript variant +1 more)	Isolated hyperchlorhidrosis	GPathogenic
Select item 2369241	NM_001218.5(CA12):c.805G>C (p.Glu269Gln)	CA12 (E209Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 751600	NM_001218.5(CA12):c.765A>G (p.Thr255=)	CA12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1263542	NM_001218.5(CA12):c.748-323dup	CA12	Duplication (intron variant)	not provided	GBenign
Select item 1291991	NM_001218.5(CA12):c.748-325_748-324insA	CA12	Insertion (intron variant)	not provided	GBenign
Select item 1276183	NM_001218.5(CA12):c.748-329_748-326del	CA12	Deletion (intron variant)	not provided	GBenign
Select item 2239660	NM_001218.5(CA12):c.689G>A (p.Cys230Tyr)	CA12 (C170Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065278	NM_001218.5(CA12):c.668G>C (p.Gly223Ala)	CA12 (G163A +1 more)	Single nucleotide variant (missense variant +1 more)	Isolated hyperchlorhidrosis	GUncertain significance
Select item 3038552	NM_001218.5(CA12):c.665G>A (p.Arg222Gln)	CA12 (R162Q +1 more)	Single nucleotide variant (missense variant +1 more)	CA12-related disorder	GBenign
Select item 2254238	NM_001218.5(CA12):c.664C>T (p.Arg222Trp)	CA12 (R162W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340408	NM_001218.5(CA12):c.646G>C (p.Ala216Pro)	CA12 (A156P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136119	NM_001218.5(CA12):c.592C>G (p.Gln198Glu)	CA12 (Q198E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779840	NM_001218.5(CA12):c.577G>A (p.Val193Ile)	CA12 (V133I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3136118	NM_001218.5(CA12):c.557T>C (p.Ile186Thr)	CA12 (I186T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1270897	NM_001218.5(CA12):c.526-256A>G	CA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2232521	NM_001218.5(CA12):c.521T>C (p.Ile174Thr)	CA12 (I174T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136117	NM_001218.5(CA12):c.505G>A (p.Val169Ile)	CA12 (V109I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232162	NM_001218.5(CA12):c.502G>A (p.Ala168Thr)	CA12 (A108T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774941	NM_001218.5(CA12):c.501C>T (p.Leu167=)	CA12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1259055	NM_001218.5(CA12):c.430-109C>A	CA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278378	NM_001218.5(CA12):c.430-132G>A	CA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252940	NM_001218.5(CA12):c.430-191A>G	CA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286474	NM_001218.5(CA12):c.429+186C>G	CA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252802	NM_001218.5(CA12):c.429+148G>A	CA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 18442	NM_001218.5(CA12):c.427G>A (p.Glu143Lys)	CA12 (E143K +1 more)	Single nucleotide variant (missense variant +1 more)	Isolated hyperchlorhidrosis	GPathogenic
Select item 2479700	NM_001218.5(CA12):c.424G>A (p.Ala142Thr)	CA12 (A82T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709480	NM_001218.5(CA12):c.408C>T (p.Ser136=)	CA12	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2546113	NM_001218.5(CA12):c.401C>G (p.Thr134Ser)	CA12 (T134S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2563465	NM_001218.5(CA12):c.383C>T (p.Pro128Leu)	CA12 (P128L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 218368	NM_001218.5(CA12):c.363C>A (p.His121Gln)	CA12 (H121Q +1 more)	Single nucleotide variant (missense variant +1 more)	Isolated hyperchlorhidrosis	GPathogenic
Select item 1030305	NM_001218.5(CA12):c.355C>T (p.His119Tyr)	CA12 (H119Y +1 more)	Single nucleotide variant (missense variant +1 more)	Isolated hyperchlorhidrosis	GUncertain significance
Select item 715053	NM_001218.5(CA12):c.315C>T (p.His105=)	CA12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3057632	NM_001218.5(CA12):c.287-5C>T	CA12	Single nucleotide variant (non-coding transcript variant +1 more)	CA12-related disorder	GLikely benign
Select item 1231766	NM_001218.5(CA12):c.286+251C>T	CA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233257	NM_001218.5(CA12):c.286+92G>A	CA12, LOC132090881	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 748309	NM_001218.5(CA12):c.249C>G (p.Ala83=)	CA12	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2694892	NM_001218.5(CA12):c.231A>G (p.Gln77=)	CA12	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 710051	NM_001218.5(CA12):c.228C>T (p.Phe76=)	CA12	Single nucleotide variant (synonymous variant +2 more)	Isolated hyperchlorhidrosis +1 more	GBenign
Select item 729193	NM_001218.5(CA12):c.204C>T (p.Asp68=)	CA12	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2408413	NM_001218.5(CA12):c.184A>C (p.Ser62Arg)	CA12 (S62R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3136116	NM_001218.5(CA12):c.161T>C (p.Leu54Pro)	CA12 (L54P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2645426	NM_001218.5(CA12):c.156C>A (p.Gly52=)	CA12	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2234453	NM_001218.5(CA12):c.150T>G (p.Cys50Trp)	CA12 (C50W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2519256	NM_001218.5(CA12):c.143C>T (p.Pro48Leu)	CA12 (P48L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1291965	NM_001218.5(CA12):c.107-108T>C	CA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229963	NM_001218.5(CA12):c.107-113G>A	CA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224646	NM_001218.5(CA12):c.86-284C>T	CA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226289	NM_001218.5(CA12):c.85+255T>A	CA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279881	NM_001218.5(CA12):c.85+94C>G	CA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 723354	NM_001218.5(CA12):c.77C>G (p.Pro26Arg)	CA12 (P26R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 718604	NM_001218.5(CA12):c.73G>A (p.Ala25Thr)	CA12 (A25T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2493391	NM_001218.5(CA12):c.43G>T (p.Val15Leu)	CA12 (V15L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2455681	NM_001218.5(CA12):c.32T>A (p.Val11Glu)	CA12 (V11E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 764881	NM_001218.5(CA12):c.21C>T (p.His7=)	CA12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1236005	NC_000015.10:g.63381972T>C	CA12	Single nucleotide variant	not provided	GBenign
Select item 1244121	NC_000015.10:g.63382096T>C	CA12	Single nucleotide variant	not provided	GBenign
Select item 1226248	NC_000015.10:g.63382290TTTG[3]	CA12	Microsatellite	not provided	GBenign
Select item 2424797	NC_000015.9:g.(?_62146656)_(64747263_?)del	APH1B, RPS27L +19 more	Deletion	not provided	GPathogenic
Select item 1809252	GRCh37/hg19 15q22.2(chr15:63560124-63637751)x1	APH1B, CA12	Copy number loss	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ARPIN-AP3S2, COMMD4 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 833184	NC_000015.10:g.(?_63042820)_(63869153_?)dup	APH1B, CA12 +8 more	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 815728	GRCh37/hg19 15q22.2-22.31(chr15:63555363-63800908)x3	USP3, RAB8B +2 more	Copy number gain	not provided	GUncertain significance
Select item 560063	Single allele	ANKDD1A, APH1B +40 more	Deletion	Nemaline myopathy 6	GLikely pathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic

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Items: 82